Mutagenetix > Incidental Mutation

Incidental Mutation 'R1867:Nup62'

208835

Institutional Source

Beutler Lab

Gene Symbol

Nup62

Ensembl Gene

ENSMUSG00000109511

Gene Name

nucleoporin 62

Synonyms

D7Ertd649e, p62, Nupc1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1867 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

44465512-44480236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44478472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 162 (S162R)

Ref Sequence

ENSEMBL: ENSMUSP00000146695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057195] [ENSMUST00000118125] [ENSMUST00000207085] [ENSMUST00000207103] [ENSMUST00000208172] [ENSMUST00000208626]

AlphaFold

Q63850

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057195
AA Change: S162R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056785
Gene: ENSMUSG00000109511
AA Change: S162R

Domain	Start	End	E-Value	Type
low complexity region	3	81	N/A	INTRINSIC
low complexity region	102	112	N/A	INTRINSIC
low complexity region	143	166	N/A	INTRINSIC
low complexity region	199	251	N/A	INTRINSIC
low complexity region	262	296	N/A	INTRINSIC
Pfam:Nsp1_C	317	433	2.3e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107891
AA Change: S162R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103523
Gene: ENSMUSG00000043858
AA Change: S162R

Domain	Start	End	E-Value	Type
low complexity region	3	81	N/A	INTRINSIC
low complexity region	102	112	N/A	INTRINSIC
low complexity region	143	166	N/A	INTRINSIC
low complexity region	199	251	N/A	INTRINSIC
low complexity region	262	296	N/A	INTRINSIC
Pfam:Nsp1_C	318	433	8.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118125

SMART Domains

Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:AlaDh_PNT_C	47	111	6.6e-9	PFAM
Pfam:Pyr_redox_2	47	111	2e-9	PFAM
Pfam:HI0933_like	67	169	1.8e-8	PFAM
Pfam:FAD_binding_2	68	108	5e-8	PFAM
Pfam:Pyr_redox	68	109	8.5e-8	PFAM
Pfam:DAO	68	159	5.6e-8	PFAM
Pfam:NAD_binding_8	71	138	1.2e-15	PFAM
Pfam:Amino_oxidase	76	511	5.9e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149779

Predicted Effect

probably benign
Transcript: ENSMUST00000207085

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207103
AA Change: S162R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000208172

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208626
AA Change: S162R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,157,560 (GRCm39)	M1K	probably null	Het
Abca4	T	A	3: 121,899,010 (GRCm39)	I664N	probably damaging	Het
Acin1	T	C	14: 54,881,718 (GRCm39)	D335G	probably damaging	Het
Acoxl	A	G	2: 127,719,707 (GRCm39)	Y156C	probably damaging	Het
Adamts20	A	G	15: 94,236,340 (GRCm39)	F844L	probably benign	Het
Ago1	A	G	4: 126,335,029 (GRCm39)	Y398H	probably damaging	Het
Aldob	A	G	4: 49,543,835 (GRCm39)	V49A	possibly damaging	Het
Arhgap18	A	G	10: 26,722,026 (GRCm39)	E71G	probably damaging	Het
Asb12	G	T	X: 94,513,950 (GRCm39)	H307N	probably damaging	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
AY358078	T	C	14: 52,037,504 (GRCm39)	M1T	probably null	Het
Bcl2l15	A	G	3: 103,745,914 (GRCm39)		probably null	Het
Brpf3	A	G	17: 29,026,342 (GRCm39)	M472V	probably benign	Het
Bsn	A	G	9: 107,983,918 (GRCm39)	S3379P	unknown	Het
Cap2	T	C	13: 46,793,555 (GRCm39)	V333A	probably damaging	Het
Cd207	T	A	6: 83,652,635 (GRCm39)	D165V	probably damaging	Het
Cfap210	A	T	2: 69,612,181 (GRCm39)		probably null	Het
Cmtr1	A	G	17: 29,893,148 (GRCm39)	T496A	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Cstb	A	G	10: 78,263,273 (GRCm39)	*99W	probably null	Het
Cstdc6	T	G	16: 36,142,148 (GRCm39)	D76A	possibly damaging	Het
Ddx11	G	A	17: 66,442,934 (GRCm39)		probably null	Het
Dip2c	T	C	13: 9,671,985 (GRCm39)	M990T	possibly damaging	Het
Epc2	A	G	2: 49,422,117 (GRCm39)	Y337C	probably damaging	Het
Fmn1	A	G	2: 113,539,783 (GRCm39)	E1326G	probably damaging	Het
Focad	A	T	4: 88,096,326 (GRCm39)	D236V	probably damaging	Het
Fsd1	G	A	17: 56,298,254 (GRCm39)	S193N	probably benign	Het
Gm4922	T	A	10: 18,660,211 (GRCm39)	R170S	possibly damaging	Het
Gm5129	T	C	5: 29,940,654 (GRCm39)		probably benign	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Hspbap1	A	T	16: 35,621,934 (GRCm39)	Y93F	possibly damaging	Het
Iars2	A	T	1: 185,050,765 (GRCm39)	D441E	probably benign	Het
Il1rap	A	T	16: 26,541,676 (GRCm39)	H639L	probably damaging	Het
Inhbc	A	T	10: 127,193,416 (GRCm39)	V200E	probably benign	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Intu	G	T	3: 40,618,765 (GRCm39)	G257V	probably damaging	Het
Kif23	C	A	9: 61,826,243 (GRCm39)	A929S	possibly damaging	Het
Kmt2b	A	T	7: 30,274,083 (GRCm39)	V2207E	possibly damaging	Het
Ksr2	A	C	5: 117,643,594 (GRCm39)	E121A	probably benign	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lpl	TGG	TG	8: 69,349,254 (GRCm39)		probably null	Het
Mcmdc2	T	C	1: 10,001,030 (GRCm39)	V435A	probably damaging	Het
Mecom	A	G	3: 30,563,577 (GRCm39)		probably null	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Mmp16	A	T	4: 18,116,013 (GRCm39)	D539V	probably benign	Het
Mpp1	A	G	X: 74,168,975 (GRCm39)		probably null	Het
Mpp2	C	T	11: 101,955,493 (GRCm39)	E86K	probably benign	Het
Mtor	T	A	4: 148,539,089 (GRCm39)	F195L	probably damaging	Het
Myo3a	T	C	2: 22,404,657 (GRCm39)	I663T	probably benign	Het
Nlrp5	G	A	7: 23,123,407 (GRCm39)	G756E	possibly damaging	Het
Nudt18	T	C	14: 70,817,335 (GRCm39)	L255P	probably damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or52n20	T	A	7: 104,320,524 (GRCm39)	I205N	possibly damaging	Het
Or6c66	A	T	10: 129,461,621 (GRCm39)	I103K	probably damaging	Het
Or7g20	G	A	9: 18,946,562 (GRCm39)	A48T	probably benign	Het
Or8h7	A	G	2: 86,720,956 (GRCm39)	S188P	probably damaging	Het
Pan2	A	G	10: 128,149,050 (GRCm39)	D506G	probably damaging	Het
Pcdh9	G	A	14: 94,125,471 (GRCm39)	S233L	probably damaging	Het
Pcdhgc5	T	G	18: 37,954,471 (GRCm39)	S582A	possibly damaging	Het
Pdik1l	T	C	4: 134,006,222 (GRCm39)	D70G	probably damaging	Het
Peg12	T	C	7: 62,113,416 (GRCm39)	H227R	probably benign	Het
Pms1	C	T	1: 53,228,546 (GRCm39)	V901I	probably benign	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Pole	A	G	5: 110,482,063 (GRCm39)	E135G	probably benign	Het
Ppp6r2	C	A	15: 89,166,141 (GRCm39)	A715E	probably benign	Het
Prickle4	T	G	17: 48,001,044 (GRCm39)	H174P	possibly damaging	Het
Prl2a1	T	C	13: 27,988,923 (GRCm39)	L16P	probably damaging	Het
Prss32	C	T	17: 24,072,868 (GRCm39)	T33M	probably benign	Het
Psmd13	C	T	7: 140,463,430 (GRCm39)	T38I	probably damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Rbbp6	T	C	7: 122,596,252 (GRCm39)	V598A	probably damaging	Het
Rbm34	C	A	8: 127,697,631 (GRCm39)	A27S	probably benign	Het
Rbm4b	A	G	19: 4,812,331 (GRCm39)	T247A	probably benign	Het
Riiad1	G	A	3: 94,380,176 (GRCm39)	P40S	possibly damaging	Het
Sema4f	T	C	6: 82,894,824 (GRCm39)	D457G	possibly damaging	Het
Sema6c	A	T	3: 95,078,099 (GRCm39)	I492F	probably damaging	Het
Serpina3a	A	T	12: 104,084,886 (GRCm39)	I94L	probably benign	Het
Skida1	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	2: 18,051,155 (GRCm39)		probably benign	Het
Slc38a1	G	A	15: 96,485,016 (GRCm39)	T221M	probably damaging	Het
Slc6a17	T	A	3: 107,379,492 (GRCm39)	M559L	probably damaging	Het
Sntg2	T	C	12: 30,286,650 (GRCm39)	N315D	probably benign	Het
Snx10	T	A	6: 51,552,890 (GRCm39)	V11E	probably damaging	Het
Spta1	A	G	1: 174,047,405 (GRCm39)	E1683G	probably benign	Het
Ssc5d	A	T	7: 4,931,506 (GRCm39)	R238W	probably damaging	Het
Ssh1	A	T	5: 114,081,512 (GRCm39)	F617L	probably damaging	Het
Taf1	T	G	X: 100,606,563 (GRCm39)	M1254R	probably damaging	Het
Tcirg1	A	G	19: 3,948,835 (GRCm39)	L450P	probably damaging	Het
Ticam1	C	A	17: 56,578,718 (GRCm39)	A126S	probably benign	Het
Tnxb	T	A	17: 34,890,821 (GRCm39)	V388E	probably damaging	Het
Tomm5	A	G	4: 45,107,939 (GRCm39)	L32P	probably damaging	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp28	T	G	9: 48,920,494 (GRCm39)	D240E	probably benign	Het
Usp34	T	C	11: 23,311,593 (GRCm39)	Y462H	possibly damaging	Het
Utp14b	C	A	1: 78,643,148 (GRCm39)	Q349K	probably damaging	Het
Utp20	G	T	10: 88,585,305 (GRCm39)	D2586E	probably benign	Het
Vmn1r173	A	G	7: 23,402,660 (GRCm39)	I298M	unknown	Het
Vmn1r37	T	A	6: 66,708,461 (GRCm39)	I29K	probably benign	Het
Vmn2r23	G	A	6: 123,679,874 (GRCm39)	G32D	probably damaging	Het
Xpo7	A	T	14: 70,931,431 (GRCm39)	F296I	probably damaging	Het
Zfhx4	A	G	3: 5,477,774 (GRCm39)	E3463G	probably damaging	Het
Zfp455	G	T	13: 67,355,509 (GRCm39)	R194L	probably benign	Het
Zfp663	T	C	2: 165,194,651 (GRCm39)	T523A	possibly damaging	Het

Other mutations in Nup62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1542:Nup62	UTSW	7	44,479,353 (GRCm39)	missense	possibly damaging	0.53
R1868:Nup62	UTSW	7	44,478,472 (GRCm39)	missense	possibly damaging	0.92
R2100:Nup62	UTSW	7	44,478,921 (GRCm39)	unclassified	probably benign
R4884:Nup62	UTSW	7	44,478,289 (GRCm39)	missense	probably damaging	0.99
R4977:Nup62	UTSW	7	44,478,449 (GRCm39)	missense	possibly damaging	0.92
R5808:Nup62	UTSW	7	44,479,416 (GRCm39)	missense	possibly damaging	0.53
R6052:Nup62	UTSW	7	44,478,464 (GRCm39)	missense	possibly damaging	0.93
R6895:Nup62	UTSW	7	44,479,157 (GRCm39)	missense	possibly damaging	0.71
R7757:Nup62	UTSW	7	44,478,419 (GRCm39)	missense	probably benign	0.00
R8322:Nup62	UTSW	7	44,478,440 (GRCm39)	missense	possibly damaging	0.92
X0026:Nup62	UTSW	7	44,478,398 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTCTGGAGGAACAGGCTTCTCC -3'
(R):5'- AAAGAGTGTAGACCCTGCAC -3'

Sequencing Primer
(F):5'- AGCTCAGCCTGAGTAACGCAG -3'
(R):5'- TGTAGACCCTGCACTGGTG -3'

Posted On

2014-06-30